TY - JOUR
TI - Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: A new syndrome?
AU - Angelousi, A.
AU - Settas, N.
AU - Faucz, F.R.
AU - Lyssikatos, C.
AU - Quezado, M.
AU - Nasiri-Ansari, N.
AU - Stratakis, C.A.
AU - Kassi, E.
JO - Vitamins and Hormones
PY - 2017
VL - 16
TODO - 4
SP - 423-428
PB - Hellenic Endocrine Society
SN - null
TODO - 10.14310/horm.2002.1763
TODO - APC protein;  calcitonin;  cytarabine;  fludarabine;  idarubicin;  guanosine triphosphatase activating protein;  RASAL1 protein, human, acute febrile neutrophilic dermatosis;  acute myeloid leukemia;  adult;  alopecia;  APC gene;  Article;  autoimmune polyendocrinopathy candidiasis ectodermal dystrophy;  calcitonin blood level;  cancer chemotherapy;  cancer staging;  case report;  clinical article;  comparative genomic hybridization;  distant metastasis;  female;  follow up;  gastritis;  gene;  gene locus;  genetic predisposition;  genetic screening;  genetic variability;  germline mutation;  Hashimoto disease;  heterozygosity;  heterozygosity loss;  histology;  human;  human tissue;  immunohistochemistry;  laryngitis;  medical history;  meningioma;  middle aged;  multiple cycle treatment;  peritoneum mesothelioma;  protein analysis;  RASAL1 gene;  rheumatoid arthritis;  Sanger sequencing;  thyroid medullary carcinoma;  thyroidectomy;  whole exome sequencing;  acute myeloid leukemia;  carcinoma;  genetics;  meningioma;  mesothelioma;  peritoneum tumor;  thyroid tumor;  tumor suppressor gene, Carcinoma, Neuroendocrine;  Female;  Genes, APC;  Germ-Line Mutation;  GTPase-Activating Proteins;  Humans;  Leukemia, Myeloid, Acute;  Meningeal Neoplasms;  Meningioma;  Mesothelioma;  Middle Aged;  Peritoneal Neoplasms;  Thyroid Neoplasms
TODO - Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor hereditary in 35% of cases. The most common syndromic form is in the context of the multiple endocrine neoplasia type 2 (MEN 2) syndromes in association with other tumors and due to germline RET mutations. We describe a 57-year-old female patient diagnosed with sporadic MTC. The patient had a history of other neoplasias, such as acute myeloid leukemia, for which she had received chemotherapy, and two other solid tumors, peritoneal mesothelioma and meningioma. Genetic analyses were carried out including whole exome and Sanger sequencing (WES and SS) and loss-of-heterozygosity (LOH) testing for the respective loci. Immunohistochemistry (IHC) was used for the detection of proteins of interest. WES showed two germline variants in the APC and RASAL1 genes confirmed by SS. In MTC tissue only there was a RET variant identified by SS; germline studies did not show any RET sequence changes. The pattern of tumors in this patient is unusual for either one of the APC- or RASAL1-associated neoplasms and her non-MEN 2-associated MTC contained a RET variant like other sporadic MTCs. As in other patients with more than one genetic variant predisposing to tumors, it is possible that this case represents a unique association. © 2018, Hellenic Endocrine Society. All rights reserved.
ER -